BDgene

Core Gene from Gene Prioritization Pathways from PBA (Pathway-based Analysis) Enriched Pathways for Core Genes Enriched Pathways for Cross-disorder Genes

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Study Report

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Basic Info

Reference	Shink, E.,2005(b) PMID: 15635693
Citation	Shink, E., M. Harvey, et al. (2005). Exclusion of non-synonymous SNPs and a polyglutamine tract in SMRT/N-CoR2 as common deleterious mutation for bipolar disorder in the Sagnenay-Lac-St-Jean population. Am J Med Genet B Neuropsychiatr Genet 134B(1): 10-12.
Disease Type	Bipolar Disorder
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	213 cases and 214 controls
SNP/Region/Marker Size	5 polymorphisms
Predominant Ethnicity	Caucasian
Population	Canadian
Gender	In case/control sample:213 individuals from the SLSJ region (60% female in BPI patients,55% female in BPII patients)
Age Group	Adults : mean age at onset/year:28(SD=11) in BPI patients and 27(SD=11) in BPII patients

Detail Info

Sample Diagnosis	DSM
Sample Status	All cases and controls were sampled from the SLSJ region. Diagnoses were pronounced by a panel including at least two psychiatrists by using a French translated version of the Structured Clinical Interview for DSM-IIIR (SCID I [Spitzer et al., 1987]). The detailed diagnosis scheme can be found elsewhere [Morissette et al., 1999]. Case diagnoses were distributed as follow:BPI (n=182) or BPII (n=31). Control subjects (n=214) were recruited from non-psychiatric genetic projects: Steinert, Marie-Charcot-Tooth, Glaucoma, and Paget. Case and control samples did not show significant difference between gender distributions according to the Fisher exact test (P-value=0.08).
Technique	DHPLC and genotyping
Statistical Method	We compared allelic and genotypic frequencies between case and control for each polymorphism using the software package CLUMP Version 1.6 [Sham and Curtis, 1995]. Empirical Pvalues were computed under a Monte-Carlo method and 1,000 simulations. The usual Chi-squared test (T1 statistic) was used to verify for allelic association.The largest Chi-squared statistic obtained by comparing one column of the original table against the total of the other columns (T3 statistic) was applied complementary to T1 statistic for genotypic analysis.
Result Summary	Our data indicated no significant allelic/genotypic association between any of the five mutations and bipolar phenotype when they were considered either individually or as haplotypes. Finally, the CAG repeat observed in SMRT/N-CoR2 did not demonstrate allelic instability and consequently it is unlikely that this polymorphism could be involved in the anticipation phenomenon reported for BP.

SNPs reported by this study for BD (count: 4)

SNP	Related Gene(s)	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
rs3040832	NCOR2	PolyQ494-510		Allelic analysis: T1 P-value = 0.771; genotypic analysis: T1 P-value = 0.728, T3 P-value = 0.122	No significant association was observed. No significant association was observed.	Negative
rs2230944	NCOR2	P2004S		Allelic analysis: T1 P-value = 1.000, OR (95% CI)=0.96(0.41-2.24); genotypic analysis: T1 P-value = 1, T3 P-value = 1	No significant association was observed. No significant association was observed.	Negative
rs2229840	NCOR2	T1699A		Allelic analysis: T1 P-value = 0.813, OR (95% CI)=1.08(0.69-1.69); genotypic analysis: T1 P-value = 0.591, T3 P-value = 0.593	No significant association was observed. No significant association was observed.	Negative
rs2227277	NCOR2	A2003T		Allelic analysis: T1 P-value = 1.000, OR (95% CI)=0.96(0.41-2.24); genotypic analysis: T1 P-value = 1, T3 P-value = 1	No significant association was observed. No significant association was observed.	Negative

Other variants reported by this study for BD (count: 1)

Variant Name	Related Gene	Type	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
NCOR2 GC34E20A	NCOR2	duplication	G781E		Allelic analysis: T1 P-value = 0.166, OR (95% CI)=0.75(0.50-1.12);genotypic analysis: T1 P-value = 0.439, T3 P-value = 0.247	No significant association was observed. No significant association was observed.	Negative

Genes reported by this study for BD (count: 1)